TCOF1 Gene Summary [Human]
This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Details
| Type | Protein Coding |
| Official Symbol | TCOF1 |
| Official Name | treacle ribosome biogenesis factor 1 [Source:HGNC Symbol;Acc:HGNC:11654] |
| Ensembl ID | ENSG00000070814 |
| Bio databases IDs | |
| Aliases | treacle ribosome biogenesis factor 1 |
| Synonyms | MFD1, TCS, TCS1, treacle, treacle ribosome biogenesis factor 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TCOF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- protein binding activity, bridging
- Treacher Collins syndrome protein Treacle
- protein binding
- LisH
- protein heterodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- organismal death
- Treacher-Collins syndrome type 1
- exencephaly
- hypoplasia
- postmenopausal osteoporosis
- anophthalmia
- hereditary disorder
- Treacher Collins-Franceschetti syndrome
- microcephaly
role in cell
- migration
- expression in
- phosphorylation in
- formation
- apoptosis
- proliferation
- number
- development
- quantity
- colony formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- pseudo nucleolar organizer
- fibrillar center
- cytosol
- dense fibrillar component
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TCOF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of translation
- skeletal system development
- neural crest cell development
- transcription of nuclear large rRNA transcript from RNA polymerase I promoter
- neural crest formation
Cellular Component
Where in the cell the gene product is active
- cytosol
- nucleolus
- fibrillar center
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- scaffold protein binding
- protein binding
- RNA binding
- protein heterodimerization activity
- protein binding, bridging